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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-70688032-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70688032&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70688032,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018052.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Ala749Thr",
"transcript": "NM_018052.5",
"protein_id": "NP_060522.3",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 782,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261776.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018052.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Ala749Thr",
"transcript": "ENST00000261776.10",
"protein_id": "ENSP00000261776.5",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 782,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018052.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261776.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*1971G>A",
"hgvs_p": null,
"transcript": "ENST00000568548.5",
"protein_id": "ENSP00000454650.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*870G>A",
"hgvs_p": null,
"transcript": "ENST00000568886.5",
"protein_id": "ENSP00000457809.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568886.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*1971G>A",
"hgvs_p": null,
"transcript": "ENST00000568548.5",
"protein_id": "ENSP00000454650.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*870G>A",
"hgvs_p": null,
"transcript": "ENST00000568886.5",
"protein_id": "ENSP00000457809.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568886.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Ala779Thr",
"transcript": "ENST00000889832.1",
"protein_id": "ENSP00000559891.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 812,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889832.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2272G>A",
"hgvs_p": "p.Ala758Thr",
"transcript": "ENST00000951931.1",
"protein_id": "ENSP00000621990.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 791,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951931.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Ala752Thr",
"transcript": "ENST00000951934.1",
"protein_id": "ENSP00000621993.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 785,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951934.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2242G>A",
"hgvs_p": "p.Ala748Thr",
"transcript": "ENST00000924551.1",
"protein_id": "ENSP00000594610.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 781,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924551.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2239G>A",
"hgvs_p": "p.Ala747Thr",
"transcript": "ENST00000951933.1",
"protein_id": "ENSP00000621992.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 780,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951933.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2212G>A",
"hgvs_p": "p.Ala738Thr",
"transcript": "ENST00000889833.1",
"protein_id": "ENSP00000559892.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 771,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889833.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2164G>A",
"hgvs_p": "p.Ala722Thr",
"transcript": "ENST00000924550.1",
"protein_id": "ENSP00000594609.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 755,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924550.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Ala721Thr",
"transcript": "ENST00000889831.1",
"protein_id": "ENSP00000559890.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 754,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889831.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Ala644Thr",
"transcript": "ENST00000951932.1",
"protein_id": "ENSP00000621991.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 677,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951932.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Ala515Thr",
"transcript": "NM_001351157.2",
"protein_id": "NP_001338086.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 548,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351157.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "ENST00000536184.6",
"protein_id": "ENSP00000439284.2",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 214,
"cds_start": 541,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536184.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.*57G>A",
"hgvs_p": null,
"transcript": "ENST00000567648.1",
"protein_id": "ENSP00000463485.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 16,
"cds_start": null,
"cds_end": null,
"cds_length": 51,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.*3831G>A",
"hgvs_p": null,
"transcript": "XM_005256038.5",
"protein_id": "XP_005256095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.3018G>A",
"hgvs_p": null,
"transcript": "ENST00000571759.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000571759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "n.*8G>A",
"hgvs_p": null,
"transcript": "ENST00000564512.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000564512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"hgvs_c": "c.*11G>A",
"hgvs_p": null,
"transcript": "ENST00000566416.1",
"protein_id": "ENSP00000455731.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566416.1"
}
],
"gene_symbol": "VAC14",
"gene_hgnc_id": 25507,
"dbsnp": "rs1423540351",
"frequency_reference_population": 0.000012461245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000103254,
"gnomad_genomes_af": 0.0000328412,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026432663202285767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.172,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018052.5",
"gene_symbol": "VAC14",
"hgnc_id": 25507,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2245G>A",
"hgvs_p": "p.Ala749Thr"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}